Epilepsy is a neurological condition characterized by unpredictable seizures. It affects around 3 million people in the United States alone, and can have serious implications for those living with it. It’s important to understand the causes of epilepsy, how it can be treated, and what kind of lifestyle changes may help manage its symptoms. My name is Amanda, and I’m here to share my story about living with epilepsy as well as provide advice on how others can cope with this disorder.

I was diagnosed with an epilepsy genetic disorder when I was forty. My seizures were the staring type of seizures, called Absence. I never knew when they occurred as I also am affected by migraines as well. I will admit, it was hard for me to come to terms with having a genetic disorder, as I had two children also affected by this genetic disorder. However, as time passed, I learned how to manage my condition and live a normal life.

I found a neurologist who prescribed medication that helped reduce the frequency and severity of my seizures and migraines, which gave me more control over their onset. I also worked on lifestyle changes such as getting enough sleep, avoiding stressful situations whenever possible, and exercising regularly in order to stay healthy. These changes have had a positive effect on my overall well-being, both mentally and physically.

It can be difficult to talk about epilepsy, but it’s important to remember that you are not alone. There is a wide range of support available for people living with this disorder, including groups and organizations that can provide both emotional and practical help. I have found comfort in talking to other people who understand what I am going through, which has helped me feel less isolated.

Living with epilepsy can be challenging at times, but the key is to find ways to stay positive and make the most out of each day. My advice for anyone recently diagnosed with this condition would be to take time to learn about your disorder, develop strategies for managing it effectively, and don’t be afraid to talk to your doctor or neurologist. Be certain to ask questions and clarify what your doctors are saying, so you can understand your treatment options. With the right support system and lifestyle modifications, living with epilepsy can be manageable.

These Symptoms Makes You Wonder

Do you or a loved one have Seizures? Ataxia? Associated Developmental Delay? You could have a genetic disorder! In this article will discuss: our journey through diagnosis to present day, and what exactly is PADDAS/PUM-1 genetic disorder.

My son was born a week early due to a planned c-section. His umbilical cord was wrapped around his neck 4 times (a record for the surgeon)! He was sent home in 3 days with no complications, as he passed all the newborn screening tests they give babies. I was told there was no brain damage, even though, no testing was done to prove otherwise. When he was at the walking stage of his development, we noticed his first delay. Instead of walking, he started talking! He never crawled much either, but neither did his older brother, so that didn’t alarm us. I talked to his medical doctor because I was really concerned about it by then, but everyone around me said to give him time, as he had been hitting his other milestones normally. My gut told me otherwise. So began our adventure into our world of PUM-1/PADDAS/SCA47……..

By 18 months of age, after intensive OT and PT, he was walking (his great-grandmother birthday too)! She was pretty proud! By his 2nd birthday, I was having him tested for Autism. As the therapist said, at the review of our results: “there is something off, but not sure what it is, we don’t think autism, as he is too social. If things don’t improve for him, come back and have him tested again, around school age.” He was a bit young, but we had him tested anyway. I was told he’s on the spectrum, because he did have Sensory Process Disorder, but he was too social for autism. So, more OT, PT, Speech, etc. ramping him up for preschool, thanks to this diagnosis. Once school started the rages started and twirling started. He would not want me to leave, as we dropped him off for preschool.

Covid hit, and things changed with school, which made things much better for him, like staying home for a few months, then waiting outside in a line, instead of waiting in the hallways (just had an a-ha moment, his rage moments, wanting mom to stay, was probably brought on as the hall noise was very loud, and lots going on at once, caused overwhelm, or sensory processing overload).

The next year his OT also noticed that his hands were shaking as he was learning to write. Like a tremor. His older brother had just been diagnosed with Epilepsy so it was throwing flags to her to have him get checked out. We went to his medical doctor and two different neurologists who all blew us off. We finally got a diagnosis. This time though, each of my sons now had different types of seizures. So the neurologist was concerned about that. She set us down to discuss genetic testing to see what was causing this. A few counseling appointments, and testing with our family later: Our diagnosis: PUM-1 or PADDAS/SCA47 gene. This newly discovered genetic disorder, discovered in 2016, and ironically my son’s birth year. PADDAS named after its symptoms that are part of the genetic disorder. Which are:

I first want to welcome you to my blog, Superhero Joey’s World! If you are wondering what this blog place is all about, feel free to look around! I am usually an open book. Below I wanted to share some information on who’s in the right place for this blog, but if you don’t fit the the below setting, you’re still welcome to see what’s new, and new information I have to share about, the Epilepsy World!

I don’t know about you, but I am tired of looking around and seeing scared, frustrated parents. Parents who just want to better understand their child’s Epilepsy diagnosis. So many are struggling with the unknown of their child’s diagnosis. There just isn’t a solid resource center to help them find more information on understanding their child and the future, so I decided to build this blog! Let me explain the what’s, why’s, and how’s, right now:

• If you are a parent (especially a mom, since I am that too), you’ll want to visit my blog!
• If you are looking for a place to better understand what your doctor is telling you at your child’s last appointment, you’ll want to visit my blog!
• Looking for someone who shares your feeling, frustrations, and gets “your” situation? Yup, visit my blog!
• Are you are a teacher looking for some good resources to share with your classroom about Epilepsy? Visit my blog! (PS, I would love to visit your classroom to share more about my book, via online, or if your around the Minnesota area, I could make an appearance in your classroom! [Visit my webpage for more information: http://www.amandaskoupublishing.com])
• Are you a doctor looking for ways to share more information with your patients? Visit my blog! (My book was written for that in mind! I hope all doctors who have patients with Epilepsy have access to my book one day, as an extra resource for their diagnosis.)

****I however, will NOT give out medical advice. I am NOT a doctor, or educated as one. The ultimate decision, should be between you and your child’s doctor on your child’s medical needs.****

This blog site is where I will share my knowledge, feelings, frustrations, and life as a mom. With two sons who have Epilepsy, I have done extensive research of my own. In fact, have written a children’s book about Epilepsy called Superhero Joey (check out my website for more information by clicking on the highlighted Superhero Joey above).

In conclusion, if you are someone wanting to feel first hand what it’s like as a mom of children with Epilepsy, feel free to browse around my blog page. Its an emotional blog, but so are we as parents going through life with a child with a uncurable (so far) disease. Please leave a comment and join this blog page! Thanks so much for stopping by!

Has your child been diagnosed with Epilepsy? I know it’s overwhelming! I am a mom to two myself. But, here are 5 things I wish I had known once my sons were diagnosed:

1. The diagnosis was the hard part! If you were like my younger son, figuring out his diagnosis took years and several doctors, (blowing us off) to get a diagnosis. It was also costly. So, congratulations! That part is over. Now on to number 2…
2. Let yourself greave over the diagnosis. I remember knowing my first son had seizures, his were the obvious Tonic Clonic type, so it was just getting the “official” diagnosis under way, but once the doctor came into our hospital room and said: “Your son has Epilepsy,” it hit me hard and had an immediate overwhelm came over me. What if he has more?…Can he play football?…Will he ever drive? To help with the overwhelm, ask questions.
3. Pick yourself up and find your new normal. Your “normal” is gone, but it’s okay, because you will find a new normal, and quickly! Don’t let the new diagnosis overwhelm you, it will get easier. Just like the first time you had your child, your life changed, but you quickly adapted. Now, you bring rescue medications, you alert your child’s teachers, coaches, bus drivers, friend’s parents, etc.
4. I want to stress this and can’t stress this enough, ASK your doctor questions, and clarify with them if you are not sure what they said. Call the clinic if you forget, knowledge is what helped me.
5. Finding the right treatment is hard. It can take your child many years to find a good treatment. Your child may find something that works right away, but then eventually wear off, so then you end up starting all over again. Once you find the right treatment, though, celebrate (even if it’s only in your head) because you have to celebrate the small things in your new found Epilepsy world.

Thanks for stopping by!

Let me know you visited, by letting me know of one thing you wished you knew as a new parent of an Epilepsy child!

Hi and Welcome! I’m Amanda Skou, an author. I’ve said this in previous posts, I know, but I have three children and two of them have been diagnosed with Epilepsy! It’s been a long road of finding out what was going on with my children. We now, after extensive research including genetics testing, have answers, and found their diagnosis. Along the way, as I would do searches for answers, I couldn’t find much. I know how frustrating it was, and didn’t want it to happen to other parents, so I decided to make my own information center, and this blog!

After researching for my children’s book on Epilepsy, Superhero Joey, I wanted a place where I can help others learn more about Epilepsy and seizures. A way I can help make more people aware of Epilepsy. I am hoping to share our experiences, my thoughts, and all things Epilepsy!

If this sounds like a place you’d like to be, please leave a message and follow my page! If you don’t think this is for you, it’s ok too, just say “hi,” so I know you stopped by! Thanks!